P85S (p.Pro85Ser) variant of TBX5 (T-box transcription factor TBX5)
P85S (p.Pro85Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- rs1565941579
- ClinGen CA386862904
- ClinVar RCV000782306
- Ensembl rs1565941579
- Likely pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Holt-Oram syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)